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Desmoid Tumor Workup

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Jun 06, 2016
 

Laboratory Studies

Immunostaining with vimentin, alpha smooth muscle actin, muscle actin, and desmin are helpful in distinguishing the tumors in the differential diagnosis of desmoid tumors.

APC germline mutations in apparently sporadic desmoid tumor patients who have no clinical or familial signs of familial adenomatous polyposis (FAP) but have a family history of colorectal carcinoma in at least one family member were evaluated by Brueckl et al[3] in 2005. They reported that patients with sporadic desmoid tumors and no clinical or laboratory signs of FAP may not need to be routinely tested for germline mutations of the APC gene. However, performing an APC mutational analysis instead of other tests (eg, esophagogastroduodenoscopy, complete colonoscopy) may be a more time- and cost-effective plan.

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Imaging Studies

CT scanning and MRI are used for the diagnosis and follow-up of desmoid tumors. They can help determine the extent of the tumor and its relationship to nearby structures, especially prior to surgical removal. MRI is superior to CT scanning in defining the pattern and the extent of involvement as well as in determining if recurrence has occurred after surgery.

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Procedures

The preferred diagnostic test is biopsy of the tumor. A fine-needle aspiration biopsy specimen may be considered.[32]

Electron microscopy may be performed. On electron microscopic examination, the spindle cells of desmoid tumors appear to be myofibroblasts. This finding is thought to represent an abnormal proliferation of myofibroblasts, which normally disappear gradually during the later stages of wound healing.

Colonoscopy and fundal examination are indicated to investigate for the presence of Gardner syndrome.

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Histologic Findings

The tumors are composed of abundant collagen surrounding poorly circumscribed bundles of spindle cells. The dense bundles of eosinophilic spindle cells contain regular nuclei and pale cytoplasm with neither mitoses nor giant cells. Macrophages, giant cells, and lymphocytes are present peripherally.

The aforementioned features are in contrast to those in a fibrosarcoma, which has greater mitotic activity, an increased nuclear-to-cytoplasm ratio, greater vascularity, less collagen production, and a paucity of immune cells.[8]

Bland fibrocytic cells of a desmoid tumor growing Bland fibrocytic cells of a desmoid tumor growing in a haphazard-to-storiform manner and producing collagen (hematoxylin-eosin, original magnification X100).
Desmoid tumor spindle cells invading skeletal muscDesmoid tumor spindle cells invading skeletal muscle (hematoxylin-eosin, original magnification X100).
Dermoid tumor spindle cells surrounding and destroDermoid tumor spindle cells surrounding and destroying skeletal muscle cells (hematoxylin-eosin, original magnification X100)
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Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Peter C Lambert, MS St George's University School of Medicine, Grenada

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Jeffrey Meffert, MD Associate Clinical Professor of Dermatology, University of Texas School of Medicine at San Antonio

Jeffrey Meffert, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Neil Shear, MD Professor and Chief of Dermatology, Professor of Medicine, Pediatrics and Pharmacology, University of Toronto Faculty of Medicine; Head of Dermatology, Sunnybrook Women's College Health Sciences Center and Women's College Hospital, Canada

Neil Shear, MD is a member of the following medical societies: Canadian Medical Association, Ontario Medical Association, Royal College of Physicians and Surgeons of Canada, Canadian Dermatology Association, American Academy of Dermatology, American Society for Clinical Pharmacology and Therapeutics

Disclosure: Nothing to disclose.

Acknowledgements

Matthew J Trovato, MD Fellow, Division of Plastic Surgery, Rutgers New Jersey Medical School

Disclosure: Nothing to disclose.

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Bland fibrocytic cells of a desmoid tumor growing in a haphazard-to-storiform manner and producing collagen (hematoxylin-eosin, original magnification X100).
Desmoid tumor spindle cells invading skeletal muscle (hematoxylin-eosin, original magnification X100).
Dermoid tumor spindle cells surrounding and destroying skeletal muscle cells (hematoxylin-eosin, original magnification X100)
 
 
 
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